DANAK

Reg. No. 1024 Accreditation for medical examination

Page: 1
In case of discrepancy between English text (regular) and Danish text (italics), the Danish text is valid
IUPAC System Component Method Equipment/Principle Location
Blood, CVS, Amniotic fluid, fibroblasts
Blod, CVS, AM og fibroblaster 		DNA purification
DNA oprensning 		643888, 480517
643888, 480517 		DNA purification using MaxWell RSC or Tecan Freedom EVO
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO
Chromosomes from cell culture on blood, CVS, amniotic fluid and fibroblasts. Chromosomes without cell culture on blood, CVS, amniotic fluid.
Kromosomer fra celledyrkning på blod, CVS, AM og fibroblaster. Kromosomer uden celledyrkning på blod, CVS og AM. 		FISH
FISH 		69272
69272 		FISH, Fluorescense In Situ Hybridization
FISH, Fluorescens In Situ Hybridization
DNA from blood, CVS, amniotic fluid, saliva, fibroblasts.
DNA fra blod, CVS, AM, spyt og fibroblaster. 		Array, SNP Genomewide CNV/LOH
Array, SNP Genomewide CNV/LOH 		339965, 704361
339965, 704361 		Array on Affymetrix CytoScan 750K or CytoScan HD.
Array på Affymetrix CytoScan 750K eller CytoScan HD.
Blood, CVS, amniotic fluid, fibroblasts
Blod, CVS, AM og fibroblaster 		Chromosomal analysis
Kromosomundersøgelse/Kromosomanalyse 		68058
68058 		Chromosomal analysis
Kromosomundersøgelse
DNA from blood, CVS, amniotic fluid, fibroblasts. Chromosomes from cell culture on blood, CVS, amniotic fluid, fibroblasts.
DNA fra blod, CVS, AM og fibroblaster. Kromosomer fra celledyrkning på blod, CVS, AM og fibroblaster. Kromosomer uden celledyrkning på blod, CVS og AM. 		Aneuploidy screening (13,18,21,X,Y);DNA
Aneuploidiscreen (13,18,21,X,Y);DNA 		175608, 69272
175608, 69272 		QF-PCR, FISH
QF-PCR, FISH
DNA from blood, CVS, amniotic fluid, fibroblasts.
DNA fra blod, CVS, AM og fibroblaster. 		rsa 15q11.2q13;DNA Angelman/Prader Willi syndrome
rsa 15q11.2q13;DNA Angelman/Prader Willi syndrom 		181497
181497 		MS-MLPA (MRC Holland), array (Affymetrix CytoScan)
MS-MLPA (MRC Holland), array (Affymetrix CytoScan)
DNA from blood
DNA fra blod 		Temple syndrome
Temple syndrom 		181497
181497 		MS-MLPA (MRC Holland)
MS-MLPA (MRC Holland)
DNA from blood
DNA fra blod 		Kagami-Ogata syndrome
Kagami-Ogata syndrom 		181497
181497 		MS-MLPA (MRC Holland)
MS-MLPA (MRC Holland)
NPU19079 DNA from blood, CVS
DNA fra blod, CVS 		FMR1-gene;DNA
FMR1-gen;DNA 		Fragile X syndrome 225073
Fragilt X syndrom 225073 		Fragment analysis using AmplideX FMR1 PCR kit on ABI 3730XL DNA Analyzer
Fragment analyse med AmplideX FMR1 PCR kit på ABI 3730XL DNA Analyzer
NPU35855 DNA from blood, CVS, amniotic fluid, fibroblasts
DNA fra blod, CVS, AM og fibroblaster 		Uniparental disomy, chromosome 7; DNA
Uniparental disomi, kromosom 7;DNA 		Uniparental disomy, chromosome 7 246379
Uniparental disomi, kromosom 7 246379 		Fragment analysis on ABI 3730 XL DNA Analyzer
Fragment analyse på ABI 3730 XL DNA Analyzer
DNA from blood, CVS, amniotic fluid, fibroblasts
DNA fra blod, CVS, AM og fibroblaster 		Uniparental disomy, chromosome 14;DNA
Uniparental disomi, kromosom 14;DNA 		Uniparental disomy, chromosome 14 246379
Uniparental disomi, kromosom 14 246379 		Fragment analysis on ABI 3730 XL DNA Analyzer
Fragment analyse på ABI 3730 XL DNA Analyzer
DNA from blood, CVS, amniotic fluid, fibroblasts
DNA fra blod, CVS, AM og fibroblaster 		Uniparental disomy, chromosome 15;DNA
Uniparental disomi, kromosom 15;DNA 		Uniparental disomy, chromosome 15 246379
Uniparental disomi, kromosom 15 246379 		Fragment analysis on ABI 3730 XL DNA Analyzer
Fragment analyse på ABI 3730 XL DNA Analyzer
DNA from blood
DNA fra blod 		Hereditary Hemorrhagic Telangiectasia, HHT, panel Version 1 011122
Hereditær hæmorrhagisk telangiektasi, HHT, panel Version 1 011122 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		Hereditary pancreatitis panel Version 1 011122.
Hereditær pancreatitis panel Version 1 011122. 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		PHEX-gene;DNA
PHEX-gen;DNA 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		AIP-gene;DNA
AIP-gen;DNA 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		CDH-gene; DNA
CDH-gen; DNA 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification using MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing, MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		PTEN-gene; DNA
PTEN-gen; DNA 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification using MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		STK11-gene; DNA
STK11-gen; DNA 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification using MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		TP53-gene; DNA
TP53-gen; DNA 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification using MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		HMBS-gene;DNA
HMBS-gen;DNA 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification using MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		Erythropoietic Protoporphyria panel Version 1 011122
Erythropoietisk protoporfyri panel Version 1 011122 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		CPOX-gene;DNA
CPOX-gen;DNA 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		UROS-gene;DNA
UROS-gen;DNA 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		UROD-gene;DNA
UROD-gen;DNA 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		PPOX-gene;DNA
PPOX-gen;DNA 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		Acute porphyria panel Version 1 011122
Akutte porfyrier panel Version 1 011122 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification using MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		Alport syndrome panel Version 1 011122.
Alport syndrom panel Version 1 011122. 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		Thin basement membrane disease Version 1 011122.
Tynd basalmembransygdom Version 1 011122. 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		Hereditary mammary cancer Version 1 011122.
Arvelig mammacancer panel Version 1 011122. 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		Hereditary melanoma panel Version 1 011122.
Arvelig malignt melanom panel Version 1 011122. 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		Hereditary mammary and ovarian cancer panel Version 1 011122.
Arvelig mamma og ovariecancer panel Version 1 011122. 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		Lynch syndrome panel Version 1 011122.
Lynch syndrom panel Version 1 011122. 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		Hereditary ovarian cancer panel Version 1 011122.
Arvelig ovariecancer panel Version 1 011122. 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		Hereditary colorectal cancer/polyp panel Version 1 011122.
Arvelig colorectal cancer/polyp panel Version 1 011122. 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		Somatic cancer panel Version 1 011122
Somatisk cancer panel Version 1 011122 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification using MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		Hyperinsulin hypoglyk 1,2,3,6 panel Version 1 011122.
Hyperinsulin hypoglyk 1,2,3,6 panel Version 1 011122. 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		Hyperinsulin hypoglyk extended panel Version 1 011122.
Hyperinsulin hypoglyk udvidet panel Version 1 011122. 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		Monogen diab. mel. MODY 1-5 panel Version 011122
Monogen diab. mel. MODY 1-5 panel Version 011122 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		Monogen diab. mel. MODY 1-13 panel Version 011122.
Monogen diab. mel. MODY 1-13 panel Version 011122. 		NGS Twist Exome, nov. 2022 733509, 738780, 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684
NGS Twist Exome, nov. 2022 733509, 738780, 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing, MLPA and VNTR (CEL-gene) using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA og VNTR (CEL-gen) med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		Neonatal dia.mel. PNDM/TNDM panel Version 011122.
Neonatal dia.mel. PNDM/TNDM panel Version 011122. 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		Neonatal dia.mel. PNDM/TNDM extended oanel Version 011122
Neonatal dia.mel. PNDM/TNDM udvpanel Version 011122 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		INS-gene;DNA
INS-gen;DNA 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		INSR-gene;DNA
INSR-gen;DNA 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		FOXP3-gene;DNA
FOXP3gen;DNA 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		EIF2AK3-gene;DNA
EIF2AK3-gen;DNA 		Wolcott-Rallison syndrome: NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148
Wolcott-Rallison syndrom: NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		Genome, DNA
Genom;DNA 		480517, 480517, 775875, 849870
480517, 480517, 775875, 849870 		DNA purification suing MaxWell RSC or Tecan Freedom EVO. NGS using Illumina NovaSeq 6000. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. NGS med Illumina NovaSeq 6000. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod 		Acutely sick child
Akut sygt barn 		480517, 480517, 775875, 849870
480517, 480517, 775875, 849870 		DNA purification using MaxWell RSC or Tecan Freedom EVO. NGS using Illumina NovaSeq 6000. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. NGS med Illumina NovaSeq 6000. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA from blood
DNA fra blod 		Known variant
Kendt variant 		NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148, 339965, 704361
NGS Twist Exome, nov. 2022 643888, 480517, 915276, 294530, 291890, 62046, 771281, 935684, 667148, 339965, 704361 		DNA purification using Maxwell RSC or Tecan Freedom EVO. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Array using Affymetrix Cytoscan HD. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering og MLPA med ABI 3730XL DNA analyzer. Array på Affymetrix CytoScan 750K eller CytoScan HD. Bioinformatik med Illumina Dragen Bio-IT platform.